@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_head { this: np:hasAssertion dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_assertion; np:hasProvenance dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_provenance; np:hasPublicationInfo dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_publicationInfo; a np:Nanopublication . dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_assertion a np:Assertion . dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_provenance a np:Provenance . dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_publicationInfo a np:PublicationInfo . } dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_assertion { miriam-gene:79840 a ncit:C16612 . lld:C1969799 a ncit:C7057 . dgn-gda:DGN43e3578269eb7a2a868d5ac95490955b sio:SIO_000628 miriam-gene:79840, lld:C1969799; a sio:SIO_001121 . } dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_provenance { dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_assertion dcterms:description "[Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:22373003; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP235155.RAcvVA_5cLP0FEzaHlBymO0dDhSMgiDoYBqck6KKgnk70130_publicationInfo { this: dcterms:created "2014-10-02T12:34:12+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }